Variant report

Variant	nsv1010638
Chromosome Location	chr4:120586178-120671835
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:120623553..120626100-chr4:120629562..120632070,2	MCF-7	breast:
2	chr4:120648083..120649725-chr4:120663986..120665688,2	MCF-7	breast:
3	chr4:120549837..120550682-chr4:120652400..120652958,2	MCF-7	breast:
4	chr4:120648083..120649725-chr4:120663986..120665688,2	MCF-7	breast:
5	chr4:120596527..120599476-chr4:120602386..120604246,2	K562	blood:
6	chr4:120628103..120631011-chr4:120987258..120989311,2	MCF-7	breast:
7	chr4:120548112..120549815-chr4:120627740..120630538,2	MCF-7	breast:
8	chr4:120620209..120622395-chr4:120625865..120628325,2	K562	blood:
9	chr4:120620209..120622395-chr4:120625865..120628325,2	K562	blood:
10	chr4:120596527..120599476-chr4:120602386..120604246,2	K562	blood:
11	chr4:120623553..120626100-chr4:120629562..120632070,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC110373.1-10	chr4:120669343-120669392	ucscGeneNc_uc003idi_2
2	lnc-AC110373.1-4	chr4:120597484-120597814	XLOC_003669
3	lnc-AC110373.1-4	chr4:120610321-120610372	XLOC_003669
4	lnc-AC110373.1-10	chr4:120653416-120653523	ucscGeneNc_uc003idi_2
5	lnc-AC110373.1-10	chr4:120652954-120653067	ucscGeneNc_uc003idi_2

No data

Variant related genes	Relation type
ENSG00000250938	chromatin interactions
ENSG00000164109	chromatin interactions
ENSG00000138735	chromatin interactions

Extended variants
information (count: 2867 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:2867 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144236448	chr4:120586200-120586201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs201047790	chr4:120586459-120586460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs115299804	chr4:120586477-120586478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184139509	chr4:120586507-120586508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs113239399	chr4:120586515-120586516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576864935	chr4:120586566-120586567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545958586	chr4:120586570-120586571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188689105	chr4:120586590-120586591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368931982	chr4:120586685-120586686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554763816	chr4:120586723-120586724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568743120	chr4:120586751-120586752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573388085	chr4:120586800-120586801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369727757	chr4:120586807-120586808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147765683	chr4:120586808-120586809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs79450967	chr4:120586820-120586821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs150358378	chr4:120586832-120586833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369922935	chr4:120586862-120586863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs62321168	chr4:120586876-120586877	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs4504231	chr4:120586891-120586892	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs142724142	chr4:120586909-120586910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs111765396	chr4:120586998-120586999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533147567	chr4:120587024-120587025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs57391877	chr4:120587108-120587109	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs75936648	chr4:120587198-120587199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12499377	chr4:120587215-120587216	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs141277342	chr4:120587246-120587247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs146946714	chr4:120587287-120587288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs529334654	chr4:120587425-120587426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs72924313	chr4:120587434-120587435	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs568212693	chr4:120587438-120587439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537350755	chr4:120587463-120587464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536010710	chr4:120587493-120587494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs13109926	chr4:120587505-120587506	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs539416484	chr4:120587512-120587513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552829596	chr4:120587568-120587569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572913136	chr4:120587592-120587593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs375479878	chr4:120587598-120587599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs373420594	chr4:120587678-120587679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536538121	chr4:120587683-120587684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541534349	chr4:120587698-120587699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs80183705	chr4:120587706-120587707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs556852457	chr4:120587707-120587708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575394555	chr4:120587710-120587711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs149184472	chr4:120587753-120587754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs9994488	chr4:120587781-120587782	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs9994651	chr4:120587803-120587804	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs143402972	chr4:120587809-120587810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs78988089	chr4:120587818-120587819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554259444	chr4:120587875-120587876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs17051362	chr4:120587896-120587897	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
small cell lung cancer	20016488	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD
Myelodysplastic syndrome	18508791	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD

Chromatin state (count:679 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120577600-120605000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:120578800-120588000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr4:120578800-120592800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr4:120583600-120587800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:120585200-120587200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:120585200-120587400	Weak transcription	Fetal Stomach	stomach
7	chr4:120585200-120587600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:120585200-120587800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr4:120585400-120588000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:120585600-120586200	Enhancers	Osteobl	bone
11	chr4:120585600-120589000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:120585600-120589600	Enhancers	Colon Smooth Muscle	Colon
13	chr4:120585800-120586200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr4:120585800-120586200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:120585800-120586200	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr4:120585800-120586200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr4:120585800-120588000	Weak transcription	NHLF	lung
18	chr4:120585800-120589000	Weak transcription	Fetal Lung	lung
19	chr4:120586000-120587400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:120586000-120588000	Weak transcription	Aorta	Aorta
21	chr4:120586000-120588200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr4:120586000-120589000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr4:120586000-120589400	Enhancers	Rectal Smooth Muscle	rectum
24	chr4:120586200-120586400	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr4:120586200-120587800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr4:120586200-120587800	Weak transcription	Osteobl	bone
27	chr4:120586200-120589600	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr4:120586400-120592600	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr4:120587200-120588200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr4:120587400-120588400	Enhancers	Fetal Stomach	stomach
31	chr4:120587400-120589400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr4:120587600-120588400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr4:120587800-120588200	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr4:120587800-120588200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr4:120587800-120588200	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr4:120587800-120588200	Enhancers	Osteobl	bone
37	chr4:120587800-120588400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr4:120588000-120588200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr4:120588000-120588200	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr4:120588000-120588200	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr4:120588000-120588200	ZNF genes & repeats	Aorta	Aorta
42	chr4:120588000-120588200	Enhancers	Left Ventricle	heart
43	chr4:120588000-120588200	Enhancers	Small Intestine	intestine
44	chr4:120588000-120588200	Enhancers	NHLF	lung
45	chr4:120588000-120588400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:120588200-120588800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr4:120588200-120589000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr4:120588200-120589000	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr4:120588200-120589000	Weak transcription	Left Ventricle	heart
50	chr4:120588200-120589200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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